Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanSMARCA4-deficient sarcoma of thorax
ORPHA:466962Disease
Also called SMARCA4-deficient thoracic sarcoma
What it is
A rare soft tissue tumor characterized by a compressive mass located in the mediastinum and/or pleura and lung, including prominent lymph node involvement, histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symptoms include dyspnea, cough, chest pain, or dysphagia, among others. The tumors are aggressive with limited response to chemotherapies, rapid local progression, high recurrence rate after surgical resection, and short median survival times. There is a strong association with smoking.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adult
- Inheritance
- Not applicable
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.